Pathogenic Variants Of DLX3 in Trico-Dento-Osseous Syndrome and Amelogenesis Imperfecta.
Objectives: To determine the type, location and consequence of the mutations reported in DLX3 that are associated with Trico-Dento-Osseous Syndrome (TDO), Amelogenesis Imperfecta (AI) and both pathologies simultaneously. Methods: A systematic literature search was performed in 4 databases, using keywords to create semantic fields adapted to each base. Initially, 115 studies were collected, selecting 15. Data extraction was performed using an excel table containing: reference, inheritance pattern, mutation, location, and various other criteria. Results: 10 mutations in DLX3 were found associated with TDO and AI. Two correspond to deletions of the complete gene, 3 to deletions of 1, 2, 4 bp and 5 were substitutions of 1 bp (3 transitions and 2 transversions). The c.571_574delGGGG and c.545C> T mutations are associated only with TDO, while the rest cause both pathologies simultaneously. In a single case the c.561_562delCT mutation was associated with hypoplastic hypomature AI. Conclusions: Most of the mutations correspond to punctual changes and a minority to small deletions, located in exons 2 and 3. Eight mutations are related to TDO and AI and two to TDO alone.
2020 Chilean Division Meeting (Virtual) 2020
Oral Medicine & Pathology Research
Briones, Diego
( Universidad de Chile
, Santiago
, Metropolitana de Santiago
, Chile
)
Lepiman, Constanza
( Universidad de Chile
, Santiago
, Metropolitana de Santiago
, Chile
)
Castro, Marcelo
( Universidad de Chile
, Santiago
, Metropolitana de Santiago
, Chile
)
Urzúa, Blanca
( Universidad de Chile
, Santiago de Chile
, Metropolitana de Santiago
, Chile
)